Polycystic kidney disease

C Bergmann, LM Guay-Woodford, PC Harris… - Nature reviews Disease …, 2018 - nature.com
Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …

Autosomal dominant polycystic kidney disease

E Cornec-Le Gall, A Alam, RD Perrone - The Lancet, 2019 - thelancet.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
kidney disease and one of the most common causes of end-stage kidney disease. Multiple …

A practical guide for treatment of rapidly progressive ADPKD with tolvaptan

FT Chebib, RD Perrone, AB Chapman… - Journal of the …, 2018 - journals.lww.com
In the past, the treatment of autosomal dominant polycystic kidney disease (ADPKD) has
been limited to the management of its symptoms and complications. Recently, the US Food …

Autosomal dominant tubulointerstitial kidney disease

O Devuyst, E Olinger, S Weber, KU Eckardt… - Nature Reviews …, 2019 - nature.com
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …

[HTML][HTML] Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

H Lemoine, L Raud, F Foulquier, JA Sayer… - The American Journal of …, 2022 - cell.com
Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …

Exome sequencing of a clinical population for autosomal dominant polycystic kidney disease

AR Chang, BS Moore, JZ Luo, G Sartori, B Fang… - Jama, 2022 - jamanetwork.com
Importance Most studies of autosomal dominant polycystic kidney disease (ADPKD)
genetics have used kidney specialty cohorts, focusing onPKD1andPKD2. These can lead to …

[HTML][HTML] Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

SR Senum, YSM Li, KA Benson, G Joli… - The American Journal of …, 2022 - cell.com
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …

Primary results of the randomized trial of metformin administration in polycystic kidney disease (TAME PKD)

RD Perrone, KZ Abebe, TJ Watnick, AD Althouse… - Kidney international, 2021 - Elsevier
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by growth of
kidney cysts and glomerular filtration rate (GFR) decline. Metformin was found to impact …

ALG9 mutation carriers develop kidney and liver cysts

W Besse, AR Chang, JZ Luo, WJ Triffo… - Journal of the …, 2019 - journals.lww.com
Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic
kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly …

[HTML][HTML] Insights into autosomal dominant polycystic kidney disease from genetic studies

MB Lanktree, A Haghighi, I di Bari… - Clinical journal of the …, 2021 - journals.lww.com
Autosomal dominant polycystic kidney disease is the most common monogenic cause of
ESKD. Genetic studies from patients and animal models have informed disease …